Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.
about
Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancyA Highly Diverse Portrait: Heterogeneity of Neuropsychological Profiles in cblC Defect.Neonatal atypical hemolytic uremic syndrome due to methylmalonic aciduria and homocystinuria.Cochlear Homocysteine Metabolism at the Crossroad of Nutrition and Sensorineural Hearing Loss.Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder.Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.The MMACHC proteome: hallmarks of functional cobalamin deficiency in humans.Cobalamin C deficiency in an adolescent with altered mental status and anorexiaWhole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy.Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes.Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC TypeGuidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.Cobalamin C defect: natural history, pathophysiology, and treatment.Treatment of cobalamin C (cblC) deficiency during pregnancy.Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening.Fetal dilated cardiomyopathy: an unsuspected presentation of methylmalonic aciduria and hyperhomocystinuria, cblC type.Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.The syndrome of deafness-dystonia: clinical and genetic heterogeneity.Cognitive and social profiles in two patients with cobalamin C disease.
P2860
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P2860
Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh
2007年學術文章
@zh-hant
name
Late-onset combined homocystin ...... neuropsychiatric disturbance.
@en
Late-onset combined homocystinuria and methylmalonic aciduria
@nl
type
label
Late-onset combined homocystin ...... neuropsychiatric disturbance.
@en
Late-onset combined homocystinuria and methylmalonic aciduria
@nl
prefLabel
Late-onset combined homocystin ...... neuropsychiatric disturbance.
@en
Late-onset combined homocystinuria and methylmalonic aciduria
@nl
P2093
P356
P1476
Late-onset combined homocystin ...... d neuropsychiatric disturbance
@en
P2093
Anne Chun-Hui Tsai
Chantal F Morel
David S Rosenblatt
Janet A Thomas
Jordan P Lerner-Ellis
Michael Yang
P2860
P304
P356
10.1002/AJMG.A.31932
P407
P577
2007-10-01T00:00:00Z